Canonical Allele Identifier: PA915962396
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93279
ClinVar RCV Id: RCV000056058 RCV000079156 RCV000119647 RCV000209979 RCV000395150 RCV000299979 RCV001510857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly2060Cys
CA024556
NM_001042723.2:c.6178G>T